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Cellosaurus ZZUi033-A (CVCL_B5G6)

[Text version]
Cell line name ZZUi033-A
Synonyms ZZU-iPS-L1-001
Accession CVCL_B5G6
Resource Identification Initiative To cite this cell line use: ZZUi033-A (RRID:CVCL_B5G6)
Comments From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6470; L1CAM; Simple; p.Ile219Val (c.655A>G); Zygosity=Hemizygous (PubMed=35042084).
Disease MASA syndrome (NCIt: C129930)
MASA syndrome (ORDO: Orphanet_2466)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=35042084

Markers:
AmelogeninX,Y
CSF1PO12
D5S8189,11
D7S8208,13
D13S3178,12
D16S53910,11
D21S1129,30
TH017,9
TPOX8
vWA17

Run an STR similarity search on this cell line
Publications

PubMed=35042084; DOI=10.1016/j.scr.2022.102663
Li S.-H., Wang Y.-C., Sun H.-F., Wang Z.-Y., Zhang Q., Wang Y.-L., Yang J., Shi C.-H., Yuan Y.-P., Wang H., Wang A.-R., Hu Z.-W., Li Z., Xu Y.-M.
Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation.
Stem Cell Res. 59:102663-102663(2022)

Cross-references
Cell line databases/resources hPSCreg; ZZUi033-A
Encyclopedic resources Wikidata; Q110434445
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4